A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15720485



Internal ID5722301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62429754..62442655hg38UCSC Ensembl
Innerchr17:62430254..62442155hg38UCSC Ensembl
Outerchr17:62428754..62443655hg38UCSC Ensembl
chr17:60507115..60520016hg19UCSC Ensembl
Innerchr17:60507615..60519516hg19UCSC Ensembl
Outerchr17:60506115..60521016hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3812902
hg1912902
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640975
Supporting Variants
SamplesHG03900
Known GenesMETTL2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15720485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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